A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977101



Internal ID22752036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46543305..46543305hg38UCSC Ensembl
chr20:45171944..45171944hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395932
Samples
Known GenesOCSTAMP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977101
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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